PRACTICAL NEUROLOGY最新文献

CT and MR angiograms (CTA and MRA) often show a double lumen (circulating or non-circulating), double lumen mimics, flaps and flap-like lesions. Interpreting these radiological abnormalities is important since their causes range from benign variants to high-risk disorders. This review illustrates the radiological characteristics of a double lumen or a flap on standard CTA and MRA/MRI and discusses their causes.

Many people with neurological disorders are at high risk of osteoporosis and fragility fractures. Such fractures are a leading cause of disability and premature mortality. There are various underlying mechanisms, including reduced bone mineral density from biomechanical factors (eg, reduced muscle strength), inflammation and/or medications such as glucocorticoids, together with an increased risk of falls. Neurologists are well placed to initiate measures to protect bone health. In this review, we address the epidemiological associations between bone health, fracture risk and different neurological disorders and elucidate the potential underlying mechanisms. We set out overarching principles for managing bone health in the context of neurological disorders, together with guidance for specific diseases.

Sleep disorders are among the most frequent and disabling conditions encountered in neurological practice. Chronic insomnia alone affects approximately 10% of adults, while other sleep disorders, including obstructive sleep apnoea, restless legs syndrome, circadian rhythm disturbances, parasomnias and narcolepsy, are often under-recognised and misdiagnosed. Over-reliance on investigations and inappropriate use of pharmacotherapy represents recurring pitfalls. Cognitive behavioural therapy for insomnia remains the gold-standard first-line therapy, yet access is limited and medications are frequently started prematurely. Advances in therapeutics, including dual orexin receptor antagonists for insomnia and orexin-based therapies for narcolepsy, offer new opportunities but require careful integration into practice. Management of restless legs syndrome remains an area where inappropriate use of medications-particularly dopamine agonists-can worsen outcomes. This review highlights common diagnostic and therapeutic pitfalls across the spectrum of sleep disorders, integrates emerging evidence and provides practical strategies for neurologists to optimise care.

Posterior reversible encephalopathy syndrome (PRES) is an acute neurological disorder characterised by seizures, altered mental status and visual disturbances. Common triggers include hypertension, renal impairment and immunosuppressive therapy. Blood transfusion and gonadotropin-releasing hormone (GnRH) agonist therapy are less frequent causes.We describe a 44-year-old woman with severe iron deficiency anaemia due to menorrhagia who received five units of blood transfusion over 3 days. Her haemoglobin increased from 18 to 94 g/L, and she was started on goserelin therapy. Fifteen days later, she presented in status epilepticus. MR scan of the brain showed bilateral parieto-occipital vasogenic oedema with cortical subarachnoid haemorrhage, consistent with PRES. Management included antiseizure medication, antihypertensives and stopping the goserelin. Follow-up imaging showed complete resolution and full clinical recovery.PRES should be considered as a potential complication following blood transfusion, especially in patients receiving GnRH agonists. Gradual correction of anaemia and close post-transfusion monitoring facilitate early recognition.

Opticospinal syndrome (concurrent involvement of the optic nerve and spinal cord) in young adults is usually caused by an immune-mediated disease, such as multiple sclerosis, neuromyelitis optica spectrum disorder or myelin oligodendrocyte glycoprotein antibody-associated disease. These conditions typically respond to corticosteroids and follow a relapsing-remitting course. We report a man with opticospinal syndrome, who initially appeared steroid-responsive, but was subsequently found to have a pathogenic mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing folate deficiency and associated neurological complications. Skin hyperpigmentation had suggested a metabolic cause, such as adrenoleukodystrophy or a disorder of cobalamin metabolism. Importantly, steroid responsiveness alone is not diagnostic for inflammatory and demyelinating disorders.

A 70-year-old woman had presented with electric shock-like left hemifacial pain, with bilateral forehead skin plaques, diagnosed as shingles. 2 weeks later, she suddenly lost vision in the left eye. She had left optic disc oedema and bilateral necrotic-looking scalp lesions. Temporal artery biopsy was consistent with active temporal arteritis. Giant cell arteritis (GCA) may rarely present with scalp necrosis due to vasculitis of the facial arteries; the resulting hemifacial pain and atypical scalp rash may be misinterpreted as varicella zoster infection, delaying urgent intervention for GCA.

Chimeric antigen receptor T cells (CAR-T cells) have revolutionised cancer treatment by offering personalised therapy of unprecedented efficacy to patients with relapsed B-cell malignancies and myeloma. CAR-T cells are designed selectively to target CD19 or other B-cell antigens with high affinity, leading to a potent immune response and effective killing of malignant B cells. More recently, CAR-T treatment has been shown to be safe and effective in a very limited number of patients with severe, refractory autoimmune conditions such as systemic lupus erythematosus, systemic sclerosis and myositis. This paper describes the early use and feasibility of CAR-T therapies in the treatment of refractory autoimmune neurological diseases.

Arthrogryposis multiplex congenita is a heterogeneous group of disorders characterised by multiple joint contractures resulting from impaired fetal movement. A 43-year-old woman presented with a long-standing congenital clubfoot, progressive scoliosis since childhood and distal joint contractures. She had pure sensory findings, with global areflexia, severe sensory ataxia and a positive Romberg sign, significantly affecting her balance and gait. Genetic analysis identified two likely pathogenic variants in the PIEZO2 gene, consistent with an autosomal recessive inheritance pattern. We discuss the differential diagnosis of arthrogryposis multiplex congenita, emphasising the importance of considering neuromuscular causes. This case highlights the role of comprehensive neurological assessment in patients with distal joint contractures and scoliosis, showing that detailed peripheral neurological findings can guide genetic testing and lead to an accurate diagnosis.